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Variant : CV361934 (NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del) Homo sapiens

Symbol: CV361934
Name: NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del
Condition: Retinal dystrophy [RCV000416295]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: CHM  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NM_000390.3:c.(?_-1)_(49+1_50-1)del
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic MapXXq21.2CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12743312
Created: 2017-02-07
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.